Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of the Nervous System
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
ISCN 46,XX[25].arr(1-22,X)x2
Species Homo sapiens
Common Name Human
Remarks Clinically affected; developmentally normal until age 3.5 years when a febrile seizure occurred; afebrile generalized tonic clonic seizures began a few months after the first febrile seizure; a MRI at age 4.3 years showed increased signal intensity on T1 and T2 weighted images with enlarged temporal horns and slightly prominent lateral ventricles; repeat MRI at age 5 years showed prominent ventricle and axial fluid spaces; EEG showed epileptic discharge bitemporarally; progressive ataxia, dysarthria, and dementia developed at age 5 years; at age 6 years receptive language was below the level of 4.5 years and expressive language was at 2 year old level; pale optic discs and partial blindness; increased sialorrhea; hypertonia; hyperactive deep tendon reflexes; equivocal plantar responses; wide-based gait with some circumduction; tremors and dysmetria; mixed profiles of curvilinear and fingerprints in enlarged lysosomes present in buffy-coat and skin biopsy; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] and a second allele has a G>A transition of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>A]; same subject as GM27177 (stem cell).
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene CLN2
Chromosomal Location 11p15.5
Allelic Variant 1 607998.0004; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation IVS5AS, G>C, -1; Sleat et al. [Science 277: 1802-1805, (1997)] described compound heterozygosity in 2 sibs with LINCL. One allele carried the arg208-to-ter nonsense mutation (204500.0003); the other allele showed a splice site mutation, a G-to-C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence.
 
Gene CLN2
Chromosomal Location 11p15.5
Allelic Variant 2 ; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation IVS5-1G>A
Remark Clinically affected; developmentally normal until age 3.5 years when a febrile seizure occurred; afebrile generalized tonic clonic seizures began a few months after the first febrile seizure; a MRI at age 4.3 years showed increased signal intensity on T1 and T2 weighted images with enlarged temporal horns and slightly prominent lateral ventricles; repeat MRI at age 5 years showed prominent ventricle and axial fluid spaces; EEG showed epileptic discharge bitemporarally; progressive ataxia, dysarthria, and dementia developed at age 5 years; at age 6 years receptive language was below the level of 4.5 years and expressive language was at 2 year old level; pale optic discs and partial blindness; increased sialorrhea; hypertonia; hyperactive deep tendon reflexes; equivocal plantar responses; wide-based gait with some circumduction; tremors and dysmetria; mixed profiles of curvilinear and fingerprints in enlarged lysosomes present in buffy-coat and skin biopsy; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] and a second allele has a G>A transition of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>A]; same subject as GM27177 (stem cell).
Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT, Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med2(6):312-8 2000
PubMed ID: 11339651
No data is available
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium